Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.
Nat Rev Mol Cell Biol
; 9(10): 759-69, 2008 Oct.
Article
em En
| MEDLINE
| ID: mdl-18813293
ABSTRACT
First described over 80 years ago, ataxia-telangiectasia (A-T) was defined as a clinical entity 50 years ago. Although not encountered by most clinicians, it is a paradigm for cancer predisposition and neurodegenerative disorders and has a central role in our understanding of the DNA-damage response, signal transduction and cell-cycle control. The discovery of the protein A-T mutated (ATM) that is deficient in A-T paved the way for rapid progress on understanding how ATM functions with a host of other proteins to protect against genome instability and reduce the risk of cancer and other pathologies.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia Telangiectasia
Tipo de estudo:
Etiology_studies
Limite:
Animals
/
Humans
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article